CTSK

The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. This gene may be subject to RNA editing. [provided by RefSeq, Jul 2008]

Description

cathepsin K

Protein family

Enzymes, Mapped to UniProt SWISS-PROT, Peptidases, Potential transmembrane proteins, Potentially secreted proteins

Chromosome

1:q21.3 (150768684 - 150780799)

Ensembl ID

ENSG00000143387  (ver. 71.37)

Orthologs

Mouse Ctsk: ENSMUSG00000028111

Human splice variants
Mouse splice variants